Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ERYTHROCYTOSIS, FAMILIAL, 2
Synonyms

POLYCYTHEMIA, VHL-DEPENDENT
ID

http://purl.bioontology.org/ontology/OMIM/263400
altLabel

POLYCYTHEMIA, VHL-DEPENDENT

ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN

POLYCYTHEMIA, CHUVASH TYPE

ECYT2
cui

C1837915
Gene Locus

3p26-p25
Gene Symbol

VHL
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU010057

http://purl.bioontology.org/ontology/OMIM/MTHU010049

http://purl.bioontology.org/ontology/OMIM/MTHU010059

http://purl.bioontology.org/ontology/OMIM/MTHU000458

http://purl.bioontology.org/ontology/OMIM/MTHU028504

http://purl.bioontology.org/ontology/OMIM/MTHU028502

http://purl.bioontology.org/ontology/OMIM/MTHU010055

http://purl.bioontology.org/ontology/OMIM/MTHU010062

http://purl.bioontology.org/ontology/OMIM/MTHU000457

http://purl.bioontology.org/ontology/OMIM/MTHU000455

http://purl.bioontology.org/ontology/OMIM/MTHU037125

http://purl.bioontology.org/ontology/OMIM/MTHU010054

http://purl.bioontology.org/ontology/OMIM/MTHU010058

http://purl.bioontology.org/ontology/OMIM/MTHU028503

http://purl.bioontology.org/ontology/OMIM/MTHU010056

http://purl.bioontology.org/ontology/OMIM/MTHU028501

http://purl.bioontology.org/ontology/OMIM/MTHU028505

http://purl.bioontology.org/ontology/OMIM/MTHU036348

http://purl.bioontology.org/ontology/OMIM/MTHU010061

http://purl.bioontology.org/ontology/OMIM/MTHU000456

http://purl.bioontology.org/ontology/OMIM/MTHU001921
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

263400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ERYTHROCYTOSIS, FAMILIAL, 2
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C563918 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C563918 Medical Subject Headings LOOM